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      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 20160,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 20161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.2:n.285-20161C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2097,
          "referenceAllele": "C",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.1933C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Arg645Gly",
        "hgvsWellDefined": "NP_001269153.1:p.Arg645Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}